The Antley-Bixler syndrome (ABS) is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniocynostosis, radio-humeral synostosis, mid-facial hypoplasia, joint contractures, genital ambiguity and arachnodactyly (Hosalkar et al., 2001). Femoral arching, ulnar arching, vertebral anomalies, and articular contractures are secondary to synostosis (especially radio-humeral synostosis) (Machado et al., 2001). Antley-Bixler syndrome (ABS) in the scientific literature is genetically heterogeneous with at least two distinct disorders: (1) ABS without disordered steroidogenesis, which appears to be a variant of the autosomal dominant fibroblast growth factor receptor (FGFR)–related craniocynostosis syndromes, and (2) ABS with disordered steroidogenesis, which appears to be caused by severe mutations in cytochrome P450 oxidoreductase (POR) (Cragun and Hopkin, 2005; McGlaughlin et al., 2010; Reardon et al., 2000; Huang et al., 2005). In addition, a phenocopy of ABS may be seen in infants of mothers treated with fluconazole, an antifungal agent, in early pregnancy (Hosalkar et al., 2001; Reardon et al., 2000). Mortality is as high as 80% in the first months of life. Prenatal diagnosis by mid-trimester ultrasound examination is possible. Fixed flexion of the elbow appears to be the essential diagnostic finding. It needs multidisciplinary team approach in management (Hosalkar et al., 2001).